Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

<p>Abstract</p> <p>Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in <it&...

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Bibliographic Details
Main Authors: Häberle Johannes, Shahbeck Noora, Ibrahim Khalid, Schmitt Bernhard, Scheer Ianina, O’Gorman Ruth, Chaudhry Farrukh A, Ben-Omran Tawfeg
Format: Article
Language:English
Published: BMC 2012-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glutamine supplementation
Glutamine synthetase
Chronic encephalopathy
Neonatal onset seizures
Hyperammonemia
Qatar consanguinity
Therapeutic trial
GABA
Neurotransmitter replenishment
SLC38
Online Access:http://www.ojrd.com/content/7/1/48

Internet

http://www.ojrd.com/content/7/1/48

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